Full data view for gene AARS

NOTE: gene name changed from AARS to AARS1
Information The variants shown are described using the NM_001605.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 8 c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 - - - - Germline - - - 0 - DNA SEQ - - CMT - - - - - - - - 0 - - 1 Heather McLaughlin
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.986G>A r.(?) p.Arg329His Unknown ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG grading: PS3,PP1,PM2,PP5; reported in Latour P 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - DNA SEQ-NG - - - - - - M - Germany - - 0 - - 1 Andreas Laner
+?/. - c.986G>A r.(?) p.(Arg329His) Unknown ACMG likely pathogenic g.70302259C>T g.70268356C>T - - AARS_000001 ACMG: PS3,PM2,PP1,PP5; Latour P et al. 2009. Am J Hum Genet 86: 77-82 - - rs267606621 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel CMT Pat-AARS-a PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-b PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-c PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-d PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Unknown - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Antoniadi 2015 - - Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel neuropathy Pat-AARS-e PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII1 PubMed: Latour 2010 4-generation family, 23 affected - - France - - 0 - - 23 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam2PatII1 PubMed: Latour 2010 3-generation family, 5 affected - - France - - 0 - - 5 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII3 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII5 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIII6 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV1 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV2 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV3 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV4 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV5 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV7 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV8 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV9 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV10 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV11 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV12 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV13 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatIV16 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatV1 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 - PubMed: Latour 2010 - - Germline yes - - 0 - DNA SEQ - - CMT Fam1PatV2 PubMed: Latour 2010 - - - France - - 0 - - 1 Johan den Dunnen
+/. - c.986G>A r.(?) p.(Arg329His) Parent #1 - pathogenic (dominant) g.70302259C>T g.70268356C>T - - AARS_000001 not in 1086 control chromosomes PubMed: McLaughlin 2012 - - Germline yes 1/363 cases CMT - 0 - DNA SEQ - - CMT Fam1CMT243 PubMed: McLaughlin 2012 4-generation family, 9 affected - - Australia - - 0 - - 9 Johan den Dunnen
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